LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

2018 ◽  
Vol 176 (5) ◽  
pp. 1184-1189 ◽  
Author(s):  
Robert C. Stowe ◽  
Qin Sun ◽  
Sarah H. Elsea ◽  
Fernando Scaglia
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Epileptic Encephalopathy ◽  
Leigh Disease ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease)

PEDIATRICS ◽  
1987 ◽  
Vol 79 (3) ◽  
pp. 370-373
Author(s):  
Hans A. Kretzschmar ◽  
Stephen J. DeArmond ◽  
Thomas K. Koch ◽  
Mulchand S. Patel ◽  
Christopher J. L. Newth ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Postmortem Examination ◽  
Leigh Disease ◽  
Complex Deficiency ◽  
The Subject ◽  
Cns Pathology ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex ◽  
Biochemical Abnormalities

Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarification requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such an unambiguous association is the subject of this report. A patient with well-documented clinical and biochemical pyruvate dehydrogenase complex deficiency is shown on postmortem examination to have the specific CNS pathology of Leigh disease. These findings, considered together with the aggregate data in the literature, suggest strongly that pyruvate dehydrogenase complex deficiency is the basic defect in a subgroup of patients with Leigh disease.

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